During a recent Uber ride, Madhuri Hegde’s driver asked her what she did for a living. The chief scientific officer for laboratory services at PerkinElmer, she prepared to bore him with a description of the tests her company had developed—most recently to flag serious genetic disorders. Instead, he was intrigued. “Where can I get one of those?” he asked. For years, PerkinElmer has only offered that clinical test to doctors. It screens for all 59 genes that researchers are sure play a role in one of 34 conditions you can treat if you catch it early enough. Genes like PKP2, mutations in which can increase the risk of arrhythmogenic right ventricular cardiomyopathy, a leading cause of sudden heart failure in young people. Or ATP7B, which can point to Wilson disease, where copper accumulates dangerously in the liver. Usually physicians only prescribe the test when they think their patients might be at risk for one of those conditions. But soon, anyone curious about their health—Hegde’s Uber driver included—will be able to request it. PerkinElmer announced Tuesday it will start selling its test this summer through the consumer genomics marketplace Helix, a spin-out of sequencing giant Illumina. Helix launched its platform last… Read full this story
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